GSD is hereditary, meaning it is passed down from parents to children. For most types of GSD, both parents are unaffected carriers, meaning they carry one copy of a misspelled gene that can cause GSD paired with a normal copy of the gene.

When both parents pass the misspelled gene to a child, the child has no normal copy of that gene and therefore develops GSD. In most cases GSD is diagnosed within the first year of life, but in some cases the diagnosis may not be made until later in childhood.

Many different enzymes are used by the body to process glycogen. As a result, there are several types of GSD. This type of GSD does not cause hypoglycemia.

A thorough medical history can also lead the doctor to suspect GSD since it is inherited. Other diagnostic tests may include:.

Each type of GSD centers on a certain enzyme or set of enzymes involved in glycogen storage or break down. GSD mostly affects the liver and the muscles, but some types cause problems in other areas of the body as well. Types of GSD with their alternative names and the parts of the body they affect most include:.

GSD types VI and IX can have very mild symptoms and may be underdiagnosed or not diagnosed until adulthood. Currently, there is no cure for GSD. Treatment will vary depending on what type of GSD your child has; however, the overall goal is to maintain the proper level of glucose in the blood so cells have the fuel they need to prevent long-term complications.

Until the early s, children with GSDs had few treatment options and none were very helpful. Then it was discovered that ingesting uncooked cornstarch regularly throughout the day helped these children maintain a steady, safe glucose level.

Cornstarch is a complex carbohydrate that is difficult for the body to digest; therefore it acts as a slow release carbohydrate and maintains normal blood glucose levels for a longer period of time than most carbohydrates in food.

Cornstarch therapy is combined with frequent meals eating every two to four hours of a diet that restricts sucrose table sugar , fructose sugar found in fruits and lactose only for those with GSD I. Typically, this means no fruit, juice, milk or sweets cookies, cakes, candy, ice cream, etc.

because these sugars end up as glycogen trapped in the liver. In females who have two X chromosomes , a mutation would have to occur in both copies of the gene to cause the disorder.

However, some women with one altered copy of the PHKA2 gene have signs and symptoms of GSD IX, such as mild hepatomegaly or short stature in childhood. These features are usually mild but can be more severe in rare cases.

Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

When the condition is caused by mutations in the PHKB or PHKG2 gene, it is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The information on this site should not be used as a substitute for professional medical care or advice.

Contact a health care provider if you have questions about your health. Glycogen storage disease type IX. Description Glycogen storage disease type IX also known as GSD IX is a condition caused by the inability to break down a complex sugar called glycogen.

Frequency GSD IX that affects the liver is estimated to occur in 1 in , people. Causes Mutations in the PHKA1 , PHKA2 , PHKB , or PHKG2 genes are known to cause GSD IX. Learn more about the genes associated with Glycogen storage disease type IX PHKA1 PHKA2 PHKB PHKG2.

Inheritance GSD IX can have different inheritance patterns depending on the genetic cause of the condition. Other Names for This Condition GSD IX GSDIX PhK deficiency Phosphorylase b kinase deficiency Phosphorylase kinase deficiency. Patient Support and Advocacy Resources Disease InfoSearch National Organization for Rare Disorders NORD.

Clinical Trials ClinicalTrials. Catalog of Genes and Diseases from OMIM GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 GLYCOGEN STORAGE DISEASE IXb; GSD9B GLYCOGEN STORAGE DISEASE IXd; GSD9D GLYCOGEN STORAGE DISEASE IXc; GSD9C.

Scientific Articles on PubMed PubMed. References Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M. Glycogen storage disease type IX: High variability in clinical phenotype.

Mol Genet Metab. doi: Epub Aug 3. Citation on PubMed Brushia RJ, Walsh DA. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.

Front Biosci. Citation on PubMed Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet. Schedule with My Duke Health MyChart.

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The diagnosis is made by doing blood tests, by examining a piece of tissue under a microscope biopsy , and by doing magnetic resonance imaging.

Treatment depends on the type of glycogen storage disease and usually involves regulating the intake of carbohydrates. There are different types of inherited disorders Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid DNA that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules read more.

In many hereditary metabolic disorders, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder.

See also Overview of Hereditary Metabolic Disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems.

Heredity is the passing of genes from one generation to the next. Children inherit their parents' Glycogen a carbohydrate Carbohydrates Carbohydrates, proteins, and fats are the main types of macronutrients in food nutrients that are required daily in large quantities.

read more is made of many glucose molecules linked together. Any glucose that is not used immediately for energy is held in reserve in the liver, muscles, and kidneys in the form of glycogen and is released when needed by the body. Missing one of the enzymes that is essential to breaking down metabolizing glycogen into glucose.

There are many different glycogen storage diseases also called glycogenoses. Each is identified by a Roman numeral. Some of these diseases cause few symptoms. Others are fatal. The specific symptoms, age at which symptoms start, and their severity vary considerably between these diseases.

For types II, V, and VII, the main symptom is usually weakness myopathy. For types I, III, and VI, symptoms are low levels of sugar in the blood hypoglycemia Hypoglycemia Hypoglycemia is abnormally low levels of sugar glucose in the blood.

Hypoglycemia is most often caused by medications taken to control diabetes. Much less common causes of hypoglycemia include read more and protrusion of the abdomen because excess or abnormal glycogen may enlarge the liver. Low levels of sugar in the blood cause sweating, confusion, and sometimes seizures and coma.

Other consequences for children may include stunted growth, frequent infections, and sores in the mouth and intestines.

Glycogen storage diseases tend to cause uric acid a waste product to accumulate in the joints, which can cause gout Gout Gout is a disorder in which deposits of uric acid crystals accumulate in the joints because of high blood levels of uric acid hyperuricemia.

The accumulations of crystals cause flares attacks read more , and in the kidneys, which can cause kidney stones Stones in the Urinary Tract Stones calculi are hard masses that form in the urinary tract and may cause pain, bleeding, or an infection or block of the flow of urine.

Tiny stones may cause no symptoms, but larger stones In type I glycogen storage disease, kidney failure is common at age 11 to 20 years or later. Glycogen storage disease is diagnosed by examining a piece of muscle or liver tissue under a microscope biopsy and by doing magnetic resonance imaging Magnetic Resonance Imaging MRI Magnetic resonance imaging MRI is a type of medical imaging that uses a strong magnetic field and very high frequency radio waves to produce highly detailed images.

During an MRI, a computer read more MRI to detect glycogen in the tissues. Doctors confirm the diagnosis by analyzing the DNA. Glycogen storage disease type II Pompe disease is now part of the screening test for newborns Newborn Screening Tests Screening tests are done to detect health conditions that are not yet causing symptoms.

Many serious disorders that are not apparent at birth can be detected by various screening tests. Symptoms of GSDI usually begin at three to four months of age and include enlargement of the liver hepatomegaly , kidney nephromegaly , elevated levels of lactate, uric acid and lipids both total lipids and triglycerides , and possible seizures caused due to repeated episodes of hypoglycemia.

Continued low blood sugar can lead to delayed growth and development and muscle weakness. Affected children typically have doll-like faces with fat cheeks, relatively thin extremities, short stature, and protuberant abdomen.

High lipid levels can lead to the formation of fatty skin growths called xanthomas. Other conditions that can be associated with untreated GSD1 include; osteoporosis, delayed puberty, gout arthritis caused by accumulation of uric acid , kidney disease, pulmonary hypertension high blood pressure in the arteries that supply the lungs , hepatic adenoma benign liver tumors , polycystic ovaries in females, an inflammation of the pancreas pancreatitis , diarrhea and changes in brain function due to repeated episodes of hypoglycemia.

Impaired platelet function can lead to a bleeding tendency with frequent nose bleeds epistaxis. In general GSD type Ib patients have similar clinical manifestations as type Ia patients, but in addition to the above mentioned manifestations, GSDIb is also associated with impaired neutrophil and monocyte function as well as chronic neutropenia after the first few years of life, all of which result in recurrent bacterial infections and oral and intestinal mucosal ulcers.

Early diagnosis and effective treatment can result in normal growth and puberty and many affected individuals live into adulthood and enjoy normal life activities.

Many female patients have had successful pregnancies and childbirth. Type I glycogen storage disease is associated with abnormalities in two genes. This type of GSDI is termed glycogen storage disease type Ia.

This type of GSDI is termed glycogen storage disease type Ib. Both these enzyme deficiencies cause excess amounts of glycogen along with fats to be stored in the body tissues. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.

The risk is the same for males and females. Type I glycogen storage disease occurs in approximately 1 in , births. The prevalence of GSDI in Ashkenazi Jews is approximately 1 in 20, This condition affects males and females in equal numbers in any given population group.

Symptoms of the following disorders can be similar to those of glycogen storage disease type I. Detailed evaluations may be useful for a differential diagnosis:. Forbes or Cori disease GSD-III is one of several glycogen storage disorders that are inherited as autosomal recessive traits.

Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase debrancher enzyme. This enzyme deficiency causes excessive amounts of an abnormally digested glycogen the stored form of energy that comes from carbohydrates to be deposited in the liver, muscles and, in some cases, the heart.

In the first few months some symptoms may overlap with GSDI elevated lipids, hepatomegaly, low glucose. Andersen disease GSD-IV also known as glycogen storage disease type IV; This GSD is also inherited as an autosomal recessive trait.

In most affected individuals, symptoms and findings become evident in the first few years of life. Such features typically include failure to grow and gaining weight at the expected rate failure to thrive and abnormal enlargement of the liver and spleen hepatosplenomegaly.

Hers disease GSD-VI is also called glycogen storage disease type VI. It usually has milder symptoms than most other types of glycogen storage diseases. It is caused by a deficiency of the enzyme liver phosphorylase.

Hers disease is characterized by enlargement of the liver hepatomegaly , moderately low blood sugar hypoglycemia , elevated levels of acetone and other ketone bodies in the blood ketosis , and moderate growth retardation. Symptoms are not always evident during childhood, and children are usually able to lead normal lives.

However, in some instances, symptoms may be severe. Glycogen storage disease IX is caused due to deficiency of phosphorylase kinase enzyme PK enzyme deficiency. The disorder is characterized by slightly low blood sugar hypoglycemia. Excess amounts of glycogen the stored form of energy that comes from carbohydrates are deposited in the liver, causing enlargement of the liver hepatomegaly.

Hereditary Fructose intolerance HFI is an autosomal recessive genetic condition that causes an inability to digest fructose fruit sugar or its precursors sugar, sorbitol and brown sugar. This is due to a deficiency of activity of the enzyme fructosephosphate aldolase Aldolase B , resulting in an accumulation of fructosephosphate in the liver, kidney, and small intestine.

Fructose and sucrose are naturally occurring sugars that are used as sweeteners in many foods, including many baby foods. This disorder can be life threatening in infants and ranges from mild to severe in older children and adults.

GSD type I is diagnosed by laboratory tests that indicate abnormal levels of glucose, lactate, uric acid, triglycerides and cholesterol. Molecular genetic testing for the G6PC and SLC37A4 genes is available to confirm a diagnosis. Molecular genetic testing can also be used for carrier testing and prenatal diagnosis.

Liver biopsy can also be used to prove specific enzyme deficiency for GSD Ia. Treatment GSDI is treated with a special diet in order to maintain normal glucose levels, prevent hypoglycemia and maximize growth and development.

Frequent small servings of carbohydrates must be maintained during the day and night throughout the life.

Calcium, vitamin D and iron supplements maybe recommended to avoid deficits. Frequent feedings of uncooked cornstarch are used to maintain and improve blood levels of glucose. Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like arthritis during the adolescent years.

Human granulocyte colony stimulating factor GCSF may be used to treat recurrent infections in GSD type Ib patients. Liver tumors adenomas can be treated with minor surgery or a procedure in which adenomas are ablated using heat and current radiofrequency ablation. Individuals with GSDI should be monitored at least annually with kidney and liver ultrasound and routine blood work specifically used for monitoring GSD patients.

Information on current clinical trials is posted on the Internet at www. All studies receiving U. government funding, and some supported by private industry, are posted on this government web site. For information about clinical trials being conducted at the National Institutes of Health NIH in Bethesda, MD, contact the NIH Patient Recruitment Office:.

Tollfree: TTY: Email: prpl cc. For information about clinical trials sponsored by private sources, contact: www. TEXTBOOKS Chen YT, Bali DS. Prenatal Diagnosis of Disorders of Carbohydrate Metabolism. In: Milunsky A, Milunsky J, eds. Genetic disorders and the fetus — diagnosis, prevention, and treatment.

West Sussex, UK: Wiley-Blackwell; Chen Y. Glycogen storage disease and other inherited disorders of carbohydrate metabolism.

In: Kasper DL, Braunwald E, Fauci A, et al. New York, NY: McGraw-Hill; Weinstein DA, Koeberl DD, Wolfsdorf JI. Type I Glycogen Storage Disease. In: NORD Guide to Rare Disorders.

Philadelphia, PA: Lippincott, Williams and Wilkins; JOURNAL ARTICLES Chou JY, Jun HS, Mansfield BC. J Inherit Metab Dis. doi: Epub Oct 7. PubMed PMID: Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.

Genet Med. Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS. Menorrhagia in patients with type I glycogen storage disease.

Obstet Gynecol ;— Dagli AI, Lee PJ, Correia CE, et al. Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries. Chou JY, Mansfield BC.

Mutations in the glucosephosphatase-alpha G6PC gene that cause type Ia glycogen storage disease. Hum Mutat. Franco LM, Krishnamurthy V, Bali D, et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.

Lewis R, Scrutton M, Lee P, Standen GR, Murphy DJ. Antenatal and Intrapartum care of a pregnant woman with glycogen storage disease type 1a. Eur J Obstet Gynecol Reprod Biol.